Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy
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Steven J. M. Jones | P. Ruben | G. Horvath | J. Friedman | K. Selby | S. Adam | G. Hendson | P. Macleod | W. Gibson | Yaoqing Shen | K. Townsend | C. Peters | Cynthia Gershome | My Linh Thibodeau